Time: 2024-07-08
Genetics researchers at the Francis Crick Institute have conducted a study exploring the different outcomes of changes in the tumor - suppressing gene VHL . This research is crucial in understanding the effects of various Genetic variations in genes linked to cancer . The study focused on over 2,000 different VHL variants , analyzing their impact on human cells over time using a new method called saturation genome editing . The results of the study revealed that some VHL variants can increase the risk of kidney cancer , while others may not significantly impact the cells ' survival . Additionally , the study found that harmful VHL variants cause cells to die and increase the activity of another gene called HIF , which is associated with tumor growth.
In a separate study , scientists from The Institute of Cancer Research , London , in collaboration with other research institutions , identified over 5,000 genetic variants that promote the growth of certain cancers . These variants were found in the BAP1 gene , associated with several types of cancer such as eye , lung , brain , skin , and kidney cancers . The study revealed that disrupting the BAP1 protein can increase the risk of developing these cancers by up to 50 % . By analyzing all possible genetic changes in BAP1 , researchers identified specific variants that could serve as therapeutic targets to treat or prevent cancer development.
The findings of both studies have significant implications for clinical practice . The VHL study at the Francis Crick Institute developed a scoring system to identify patients with VHL mutations who could benefit from specific treatments , such as belzutifan . Similarly , the BAP1 study results are freely available to doctors , allowing them to diagnose patients accurately and choose the most effective therapies . Genetic screening for harmful BAP1 variants can guide preventative measures , enhance treatment effectiveness , and improve the quality of life for individuals at risk of developing cancer.
Both studies underscore the importance of understanding genetic variations in cancer risk genes . The researchers are now focusing on expanding their research to other cancer risk genes to provide more comprehensive diagnostic tools for patients . By mapping genetic effects across various genes , they aim to improve disease prognosis , develop targeted treatments , and enhance outcomes for individuals with cancer predispositions . The ultimate goal is to make life - saving genetic insights accessible to all populations , regardless of their ancestry , to revolutionize cancer diagnosis and treatment strategies.
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